P55084
PR
Gene name |
HADHB (MSTP029) |
Protein name |
Trifunctional enzyme subunit beta, mitochondrial |
Names |
TP-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3032 |
EC number |
2.3.1.16: Transferring groups other than amino-acyl groups |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P55084
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5ZQZ | EM | 420 A | B/D | 1-474 | PDB |
| 5ZRV | EM | 770 A | B/D/F/H | 1-474 | PDB |
| 6DV2 | X-ray | 360 A | A/B/C/D/E/F | 34-474 | PDB |
| AF-P55084-F1 | Predicted | AlphaFoldDB |
403 variants for P55084
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000078340 rs3839049 RCV000270663 RCV000144492 |
2 | T>missing | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1671530038 RCV001317759 |
22 | S>C | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295648 rs754537494 CA1560102 |
45 | T>M | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000493351 RCV001208691 rs746076418 CA1560107 |
58 | D>G | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_021128 | 59 | G>D | MTPD [UniProt] | Yes | UniProt |
|
RCV000518877 rs780351691 VAR_021129 RCV001197680 CA1560109 |
61 | R>C | Variant assessed as Somatic; 0.0 impact. Mitochondrial trifunctional protein deficiency MTPD [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_007493 CA341339 RCV000520375 rs121913132 RCV003156215 RCV000015970 |
61 | R>H | Mitochondrial trifunctional protein deficiency 2 Mitochondrial trifunctional protein deficiency MTPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs760290863 CA1560140 RCV001312307 |
77 | H>R | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001327120 CA346091719 rs1171889657 |
87 | L>S | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000645249 rs373356931 CA1560162 |
89 | H>R | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000376635 rs145712438 RCV001507553 CA1560167 |
91 | T>I | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_021130 | 117 | R>G | MTPD [UniProt] | Yes | UniProt |
|
rs886037844 RCV003156238 |
120 | A>missing | Mitochondrial trifunctional protein deficiency 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_021131 RCV000687888 rs773127211 CA1560200 |
121 | L>P | Mitochondrial trifunctional protein deficiency MTPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001249195 rs1672558537 |
131 | A>V | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371159065 CA1560206 RCV000224287 RCV000793629 |
133 | T>A | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371159065 CA1560207 VAR_021132 |
133 | T>P | MTPD [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs750956714 RCV001249194 CA1560209 |
136 | M>T | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001249196 rs200718690 |
143 | Q>E | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672561193 RCV001214265 |
144 | A>V | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346092310 RCV000735653 rs1558356679 |
164 | G>D | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766573917 RCV001333279 CA1560247 |
165 | V>I | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000263424 RCV001753798 rs138696018 CA1560264 |
187 | N>S | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1560265 RCV001712451 RCV002525963 rs143683481 RCV000660406 |
189 | A>T | Inborn genetic diseases Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000560656 RCV002528414 rs764507324 CA1560271 |
195 | R>Q | Inborn genetic diseases Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1560273 RCV000519204 RCV001044239 rs142475516 |
197 | S>P | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758393205 RCV001141295 CA1560303 |
212 | P>L | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001141296 rs149693931 CA1560305 |
214 | V>I | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759136382 RCV000702740 CA1560314 |
229 | R>* | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA44336458 RCV000714892 rs987203346 |
232 | A>T | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs745646607 RCV000497579 RCV001856999 |
233 | A>missing | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764006338 RCV000318622 CA1560319 |
238 | R>W | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_021133 CA346093022 rs1166120479 |
242 | D>G | MTPD [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs121913133 CA341340 VAR_007494 RCV003156216 RCV000481427 |
247 | R>H | Mitochondrial trifunctional protein deficiency 2 MTPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs770044899 RCV000822907 CA346093082 |
252 | A>T | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_021134 | 259 | G>del | MTPD [UniProt] | Yes | UniProt |
|
CA341338 RCV003156214 rs121913131 VAR_007495 |
263 | D>G | Mitochondrial trifunctional protein deficiency 2 MTPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000185941 CA312590 RCV000645254 rs57969630 VAR_061897 |
277 | K>R | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1560356 VAR_021135 rs751772298 |
280 | G>D | MTPD [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs374979465 RCV002513822 CA220474 RCV000078341 |
282 | R>C | Variant assessed as Somatic; 0.0 impact. Mitochondrial trifunctional protein deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_021136 | 294 | P>L | MTPD [UniProt] | Yes | UniProt |
|
VAR_021137 CA346093850 RCV000779320 rs1558357879 |
294 | P>R | HADHA-Related Disorders MTPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs891954464 RCV000662022 CA346093903 |
301 | G>R | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_021138 rs891954464 CA44337398 |
301 | G>S | MTPD [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
COSM1185852 CA1560370 rs769558977 RCV000490477 |
307 | N>D | lung Mitochondrial trifunctional protein deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA1560405 RCV001143152 rs777680722 |
332 | K>E | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770736746 RCV001261547 CA1560407 |
333 | P>L | Variant assessed as Somatic; 0.0 impact. Mitochondrial trifunctional protein deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs774054520 CA1560408 RCV001313416 |
334 | K>Q | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001507555 RCV001053590 CA1560453 rs374840025 |
372 | D>V | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001048154 rs1558360702 |
375 | A>T | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774703599 CA346095992 RCV001349432 |
381 | A>V | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs144711755 CA1560456 RCV000779321 |
383 | S>L | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1023807527 CA44342258 RCV002254007 |
389 | N>D | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764623179 RCV003156229 RCV000170518 CA346844 |
392 | A>V | Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346096147 RCV000986601 rs146538551 |
402 | Y>* | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003156217 CA341341 rs121913134 VAR_017409 |
444 | R>K | Mitochondrial trifunctional protein deficiency 2 MTPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA1560517 rs781574694 RCV001136587 |
446 | R>W | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA44342947 rs971767907 RCV001136588 |
448 | E>G | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs267606859 CA341344 RCV000015974 RCV003125832 |
455 | V>G | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA346096969 rs1376342675 RCV000986602 |
459 | A>T | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA44347347 RCV000530939 rs942477332 |
473 | P>T | Mitochondrial trifunctional protein deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs763333945 RCV000485249 |
1 | M>V | No |
ClinVar dbSNP |
|
|
CA1560049 rs766553932 |
3 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs866708381 CA44371768 |
7 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973465081 CA44371778 |
11 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 15 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768017278 CA1560054 |
16 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs920297938 CA44371795 |
17 | W>* | No |
ClinGen Ensembl |
|
|
CA346101130 rs1313401825 |
18 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756430935 CA1560056 |
21 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs764430901 CA1560057 |
22 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs764494047 CA1560077 |
23 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1560076 rs761139282 |
23 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346101421 rs1434038212 |
25 | P>L | No |
ClinGen gnomAD |
|
|
CA346101477 rs1295452279 |
27 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764825824 CA1560080 |
31 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1560081 rs764825824 |
31 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs779498186 CA1560083 |
32 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560082 rs757859545 |
32 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752264795 CA1560084 |
33 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560085 rs372980146 |
33 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs1213140579 CA346101627 |
35 | A>V | No |
ClinGen Ensembl |
|
|
CA44371946 rs376096533 |
36 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs781309147 CA1560086 |
36 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781309147 CA346101633 |
36 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201078199 CA1560087 |
37 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44371947 rs201078199 |
37 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553040477 CA1560099 |
38 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1560100 rs765893367 |
39 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs751072011 CA1560101 |
42 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191272205 CA346104410 |
42 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 44 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346104513 rs1172054548 |
45 | T>A | No |
ClinGen gnomAD |
|
|
CA346104515 rs754537494 |
45 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313961168 CA346104691 |
49 | P>L | No |
ClinGen gnomAD |
|
|
rs1360476870 CA346104700 |
50 | N>D | No |
ClinGen gnomAD |
|
|
CA44378584 rs1048447556 |
52 | R>S | No |
ClinGen gnomAD |
|
|
rs755967503 CA1560105 |
52 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA44378593 rs909977699 |
53 | N>D | No |
ClinGen gnomAD |
|
|
CA346104881 rs1342180324 |
56 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1342180324 CA346104880 |
56 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA346104900 rs1252585564 |
57 | V>A | No |
ClinGen gnomAD |
|
|
rs772220363 CA1560108 |
58 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1560110 COSM1407195 rs768738452 |
62 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs867374777 CA44378620 |
63 | P>L | No |
ClinGen Ensembl |
|
|
rs1198341356 CA346104997 |
63 | P>T | No |
ClinGen gnomAD |
|
|
CA346105072 rs1306632577 |
65 | L>F | No |
ClinGen TOPMed |
|
|
rs901424482 CA44378621 |
66 | L>V | No |
ClinGen Ensembl |
|
|
CA1560111 rs373956954 |
67 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346105141 rs1436974910 |
68 | G>C | No |
ClinGen Ensembl |
|
|
rs996233345 CA346105212 |
70 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA44378631 rs996233345 COSM3798884 |
70 | S>L | ovary Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1375427320 CA346107835 |
72 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA44383205 rs978388005 |
73 | D>E | No |
ClinGen gnomAD |
|
|
CA346107866 rs371877772 |
73 | D>N | No |
ClinGen gnomAD |
|
|
CA44383201 rs371877772 |
73 | D>Y | No |
ClinGen gnomAD |
|
|
CA1560137 rs759319520 |
74 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346107917 rs1252787471 |
75 | M>I | No |
ClinGen TOPMed |
|
|
CA44383220 rs186435462 |
75 | M>V | No |
ClinGen 1000Genomes |
|
|
rs767110686 CA1560138 |
76 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1560141 rs753831601 |
83 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756937853 CA1560142 |
85 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756937853 CA346108127 |
85 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761872400 CA1560159 |
86 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764919038 CA1560160 |
86 | G>V | No |
ClinGen ExAC TOPMed |
|
|
CA1560164 rs767680257 |
89 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1560166 rs777966733 |
90 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1560165 rs756180402 |
90 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs757818632 CA1560168 |
93 | V>A | No |
ClinGen ExAC |
|
|
CA346091768 rs1296565242 |
95 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs779315851 CA1560169 |
95 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1296565242 CA346091767 |
95 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346091778 rs1283038758 |
97 | V>I | No |
ClinGen gnomAD |
|
|
rs1424031232 CA346091784 |
98 | V>I | No |
ClinGen gnomAD |
|
|
rs746182810 CA1560171 |
99 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772575456 CA1560172 |
102 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1407196 CA44331712 rs927919080 |
102 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA346091836 rs1261554885 |
105 | T>I | No |
ClinGen gnomAD |
|
|
CA1560173 rs775219079 |
107 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs200528001 CA44331749 |
108 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs1432044632 CA346091856 |
109 | E>K | No |
ClinGen gnomAD |
|
|
CA1560177 rs768042092 |
110 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1560176 rs768042092 |
110 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1560178 rs761625703 |
111 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769733075 CA1560179 |
113 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs773157876 CA1560180 |
114 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1560181 rs146328300 |
114 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1432653984 CA346091894 |
115 | V>M | No |
ClinGen gnomAD |
|
|
rs766228457 CA1560182 |
116 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752901556 CA1560183 |
117 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1560184 rs761005966 |
118 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_035705 | 119 | A>V | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA44333954 rs866499100 |
121 | L>F | No |
ClinGen Ensembl |
|
|
CA1560201 rs762934725 |
123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1560202 rs202119564 |
124 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346091968 rs1558355588 |
125 | F>L | No |
ClinGen Ensembl |
|
|
CA1560203 rs774171607 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346091998 rs759277349 |
130 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907003380 CA44334006 |
130 | P>L | No |
ClinGen TOPMed |
|
|
rs759277349 CA1560204 |
130 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560205 rs764324320 |
131 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201357823 CA1560208 |
135 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201357823 CA346092024 |
135 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346092037 rs1558355638 |
137 | A>T | No |
ClinGen Ensembl |
|
|
rs1574661275 CA346092046 |
138 | C>F | No |
ClinGen Ensembl |
|
|
rs1172354987 CA346092057 |
139 | I>M | No |
ClinGen TOPMed |
|
|
CA1560210 rs759026304 |
140 | S>Y | No |
ClinGen ExAC |
|
|
rs751932958 CA1560212 |
141 | A>P | No |
ClinGen ExAC |
|
|
rs751932958 CA1560213 |
141 | A>S | No |
ClinGen ExAC |
|
|
CA346092071 rs777313153 |
142 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560215 rs747820768 |
142 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs747820768 CA1560216 |
142 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs200718690 CA1560218 |
143 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA44334147 rs985090455 |
145 | M>T | No |
ClinGen Ensembl |
|
|
CA346092095 rs1201534189 |
146 | T>A | No |
ClinGen TOPMed |
|
|
CA1560219 rs770811332 |
146 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346092103 rs1294701193 |
147 | T>R | No |
ClinGen gnomAD |
|
|
CA346092120 rs1191227408 |
148 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1357647406 CA346092138 |
150 | G>V | No |
ClinGen TOPMed |
|
|
CA346092154 rs1475758972 |
151 | L>F | No |
ClinGen gnomAD |
|
|
CA1560239 rs745857676 |
153 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346092210 rs1238381082 |
156 | Q>R | No |
ClinGen TOPMed |
|
|
rs201297849 CA44335523 |
158 | D>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 159 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1560240 rs771889730 |
159 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1310524359 CA346092264 |
160 | I>N | No |
ClinGen TOPMed |
|
|
rs371100088 CA1560242 |
161 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA346092296 RCV000997089 TCGA novel rs1574662730 |
163 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs774905703 CA1560248 |
165 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs760009170 CA1560249 |
166 | E>G | No |
ClinGen ExAC |
|
|
rs760009170 CA1560250 |
166 | E>V | No |
ClinGen ExAC |
|
|
CA44335614 rs756489045 CA1560252 |
167 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs752963725 CA1560251 |
167 | L>V | No |
ClinGen ExAC |
|
|
rs763674788 CA1560253 |
168 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs778346714 CA1560256 |
170 | D>G | No |
ClinGen ExAC |
|
|
rs35274385 CA346092382 |
170 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35274385 CA1560255 |
170 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367891116 CA1560258 |
172 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1379443803 CA346092427 |
173 | I>T | No |
ClinGen TOPMed |
|
|
rs780072612 CA1560259 |
174 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1286569512 CA346092438 |
174 | R>H | No |
ClinGen gnomAD |
|
|
CA44335691 rs951478194 |
176 | S>* | No |
ClinGen Ensembl |
|
|
CA44335708 rs984371001 |
178 | K>R | No |
ClinGen Ensembl |
|
|
CA1560261 rs746755261 |
183 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA44335748 rs1017633093 |
183 | M>V | No |
ClinGen Ensembl |
|
|
CA1560262 rs768588630 |
184 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768588630 CA346092573 |
184 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778077779 CA1560263 |
187 | N>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000487741 rs1064797251 |
189 | A>missing | No |
ClinVar dbSNP |
|
|
rs372006332 CA1560267 |
190 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1560266 rs372006332 |
190 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772405727 CA346092625 |
192 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772405727 CA1560268 |
192 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776077327 CA1560269 |
193 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560270 rs552292698 |
195 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1376118526 CA346092674 |
199 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1560274 COSM1407199 rs534616210 |
203 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1019327 CA1560275 rs749861331 |
203 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA44335882 rs933023555 |
204 | F>L | No |
ClinGen TOPMed |
|
|
CA346092759 rs1558356912 |
205 | N>S | No |
ClinGen Ensembl |
|
|
rs1574662963 CA346092747 |
205 | N>Y | No |
ClinGen Ensembl |
|
|
CA1560279 rs754819096 |
208 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781179195 CA1560280 |
209 | P>L | No |
ClinGen ExAC |
|
|
VAR_028231 CA44335909 rs17851200 |
209 | P>S | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 210 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446857112 CA346092836 |
211 | L>H | No |
ClinGen TOPMed |
|
|
rs1397166386 CA346092847 |
213 | A>V | No |
ClinGen gnomAD |
|
|
rs1295138799 CA346092880 |
218 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1260605899 CA346092875 |
218 | S>P | No |
ClinGen gnomAD |
|
|
CA1560307 rs777145813 |
219 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770203354 CA1560309 |
220 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1347850489 CA346092902 |
222 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1560310 rs772738545 |
223 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1560311 rs762728196 |
224 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762728196 CA346092919 |
224 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1560312 rs540636162 |
225 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1260636485 CA346092942 |
228 | D>A | No |
ClinGen gnomAD |
|
|
rs759136382 CA346092947 |
229 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10586170 RCV000239502 rs375654005 |
229 | R>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs375654005 CA1560315 RCV000493086 |
229 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM720732 CA346092960 rs987203346 |
232 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1049552482 CA44336488 |
236 | V>L | No |
ClinGen TOPMed |
|
|
rs369313023 CA1560320 |
238 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA44336501 rs140128759 |
239 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1560321 rs75788368 |
240 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1574663511 RCV000997090 CA346093011 |
241 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346093030 rs1370902789 |
243 | E>G | No |
ClinGen gnomAD |
|
|
rs1283105502 CA346093038 |
244 | Y>C | No |
ClinGen gnomAD |
|
|
CA1560323 rs747043520 |
245 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560324 rs755064267 |
247 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA346093055 rs121913133 |
247 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346093056 rs1484718158 |
248 | S>T | No |
ClinGen gnomAD |
|
|
rs1438663446 CA346093064 |
249 | H>D | No |
ClinGen TOPMed |
|
|
CA1560325 rs748760559 |
250 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs770044899 CA1560326 |
252 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773677207 CA1560327 |
252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191611257 CA346093110 |
256 | Q>* | No |
ClinGen gnomAD |
|
|
rs372836972 CA1560328 |
257 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346093135 rs1487220810 |
259 | G>V | No |
ClinGen TOPMed |
|
|
CA346093139 rs1357250203 |
260 | L>F | No |
ClinGen gnomAD |
|
|
rs1343638857 CA346093452 |
268 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1560330 rs774156064 |
268 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs767202789 CA1560332 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775105552 CA1560351 |
273 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1560354 rs776447159 |
276 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA44337209 rs982733832 |
278 | D>H | No |
ClinGen TOPMed |
|
|
CA1560355 rs765086817 |
279 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1560358 rs140355426 |
282 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1560359 rs756159407 |
288 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778271611 CA1560360 |
289 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1560361 rs566657165 |
290 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1560362 rs573709691 |
291 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418585007 CA346093840 |
293 | K>N | No |
ClinGen gnomAD |
|
|
CA346093846 rs1409470281 |
294 | P>S | No |
ClinGen gnomAD |
|
|
CA346093858 rs1356827712 |
295 | A>E | No |
ClinGen gnomAD |
|
|
rs745484092 CA1560364 |
295 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746471548 CA1560366 |
299 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560369 rs761800398 |
306 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA44337434 rs761800398 |
306 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762770795 CA1560372 |
310 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456051908 CA346094397 |
312 | T>S | No |
ClinGen TOPMed |
|
|
CA1560393 rs760854659 |
314 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 316 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776810946 CA1560395 |
316 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765782727 CA1560397 |
318 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs750973091 CA1560398 |
321 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1560399 rs758786432 |
322 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758786432 CA1560400 |
322 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1560401 rs754630670 |
324 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780932099 CA1560402 |
325 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346094602 rs1267365357 |
328 | A>T | No |
ClinGen TOPMed |
|
|
CA346094622 COSM3743740 rs1275157017 |
329 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1560403 rs368286401 |
329 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1560404 rs368286401 |
329 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346094633 rs1349682003 |
330 | G>A | No |
ClinGen gnomAD |
|
|
rs749277340 CA1560406 |
333 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346094674 rs770736746 |
333 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44339997 rs889333992 |
335 | A>V | No |
ClinGen Ensembl |
|
|
CA1560409 rs745704856 |
336 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1232738456 CA346094704 |
336 | Y>C | No |
ClinGen TOPMed |
|
|
CA346094723 rs1327962825 |
338 | R>K | No |
ClinGen TOPMed |
|
|
rs755603548 CA1560422 |
339 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1560424 rs141484936 |
341 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436467631 CA346094842 |
343 | V>G | No |
ClinGen gnomAD |
|
|
rs1574667439 CA346094830 |
343 | V>M | No |
ClinGen Ensembl |
|
|
rs1345919957 CA346094877 |
345 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 346 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44340196 rs1038882025 |
348 | K>N | No |
ClinGen TOPMed |
|
|
rs1184371458 CA346094965 |
348 | K>Q | No |
ClinGen gnomAD |
|
|
rs757103067 CA346095089 |
351 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757103067 CA1560426 |
351 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796051974 RCV000185943 |
354 | G>missing | No |
ClinVar dbSNP |
|
|
rs1370999216 CA346095497 |
355 | P>A | No |
ClinGen gnomAD |
|
|
CA1560445 rs756803959 |
357 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1560447 rs750442725 |
358 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750442725 CA1560448 |
358 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1294870206 CA346095633 |
360 | P>A | No |
ClinGen gnomAD |
|
|
rs1294870206 CA346095636 |
360 | P>S | No |
ClinGen gnomAD |
|
|
rs887604101 CA44341259 |
361 | K>E | No |
ClinGen TOPMed |
|
|
rs887604101 CA346095671 |
361 | K>Q | No |
ClinGen TOPMed |
|
|
rs754886646 CA44341274 |
364 | E>G | No |
ClinGen Ensembl |
|
|
CA1560452 rs778836074 |
368 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347666506 CA346095824 |
370 | M>V | No |
ClinGen gnomAD |
|
|
CA346095871 rs1277778417 |
373 | I>F | No |
ClinGen gnomAD |
|
|
CA346095891 rs1327460956 |
374 | D>V | No |
ClinGen gnomAD |
|
|
rs1260513145 CA346095906 |
375 | A>D | No |
ClinGen gnomAD |
|
|
rs1558360702 CA346095902 |
375 | A>S | No |
ClinGen Ensembl |
|
|
CA346095960 rs1558360722 |
379 | H>R | No |
ClinGen Ensembl |
|
|
rs774703599 CA1560455 |
381 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs902666831 CA44341341 |
381 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346096026 RCV000997091 rs1574669267 |
385 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA44342245 rs1012464900 |
386 | I>V | No |
ClinGen Ensembl |
|
|
rs1168370712 CA346096069 |
391 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1560480 rs764623179 |
392 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs970921315 CA44342290 |
393 | M>I | No |
ClinGen Ensembl |
|
|
CA346096082 rs1380859665 |
393 | M>T | No |
ClinGen TOPMed |
|
|
CA346096079 rs1229709357 |
393 | M>V | No |
ClinGen gnomAD |
|
|
rs995152890 CA44342293 |
394 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1560481 rs772741454 |
399 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049009670 CA44342339 |
400 | E>D | No |
ClinGen TOPMed |
|
|
CA1560484 rs766366433 |
401 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44342377 rs894288423 |
401 | N>K | No |
ClinGen TOPMed |
|
|
rs1176365533 CA346096142 |
402 | Y>H | No |
ClinGen gnomAD |
|
|
CA346096150 rs1473658324 |
403 | M>V | No |
ClinGen gnomAD |
|
|
rs1553323072 RCV000482734 |
404 | G>* | No |
ClinVar dbSNP |
|
|
CA346096160 rs1385933339 |
404 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs918753033 CA346096158 |
404 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs918753033 CA44342424 |
404 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346096161 rs1385933339 |
404 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346096167 rs1417316275 |
405 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1560502 rs773015233 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs374949183 CA44342832 |
415 | E>G | No |
ClinGen Ensembl |
|
|
rs762490580 CA1560503 |
417 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1131691427 CA346096282 RCV000494301 |
420 | W>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346096760 rs1379258705 |
425 | S>F | No |
ClinGen gnomAD |
|
|
RCV000078338 rs398123239 CA220470 |
427 | G>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1192353246 CA346096766 |
427 | G>R | No |
ClinGen TOPMed |
|
|
CA1560506 rs375329638 |
430 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1560507 rs759583019 |
432 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1560508 rs767383739 |
433 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752485728 CA1560509 |
434 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA346096829 rs1475116669 |
437 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1560511 rs765432347 |
438 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA346096844 rs1450507805 |
439 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346096840 rs1392529342 |
439 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370682967 CA1560512 |
440 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1574669957 CA346096857 |
441 | A>G | No |
ClinGen Ensembl |
|
|
rs758459657 CA1560513 |
441 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780157046 CA1560514 |
443 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1412468015 CA346096869 |
443 | N>S | No |
ClinGen gnomAD |
|
|
CA1560515 rs559553369 |
444 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368451226 CA1560518 |
446 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346096887 rs1487328044 |
447 | K>Q | No |
ClinGen gnomAD |
|
|
rs935130427 CA44342952 |
450 | G>D | No |
ClinGen Ensembl |
|
|
CA346096917 rs1262363422 |
451 | Q>R | No |
ClinGen gnomAD |
|
|
CA44342961 rs919029156 |
453 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1394615753 CA346096931 |
453 | G>D | No |
ClinGen TOPMed |
|
|
CA346096939 rs1446535238 |
454 | L>F | No |
ClinGen gnomAD |
|
|
rs267606859 CA1560519 |
455 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs267606859 CA1560520 |
455 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs71441019 CA44342982 |
455 | V>M | No |
ClinGen Ensembl |
|
|
rs930283682 CA44343052 |
457 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770530616 CA1560521 |
457 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1560524 rs563394773 |
459 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1558361844 CA346096980 |
460 | A>T | No |
ClinGen Ensembl |
|
|
rs530599892 CA1560525 |
462 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 464 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323896748 CA346097917 |
467 | M>L | No |
ClinGen gnomAD |
|
|
rs1332455574 CA346097963 |
468 | I>M | No |
ClinGen TOPMed |
|
|
CA346098016 rs1349651400 |
471 | A>T | No |
ClinGen gnomAD |
|
|
rs756917005 CA1560541 |
473 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs942477332 CA346098074 |
473 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346098110 rs1558365016 |
474 | K>N | No |
ClinGen Ensembl |
1 associated diseases with P55084
[MIM: 609015]: Mitochondrial trifunctional protein deficiency (MTPD)
A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. {ECO:0000269|PubMed:12754706, ECO:0000269|PubMed:8651282, ECO:0000269|PubMed:9259266}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. {ECO:0000269|PubMed:12754706, ECO:0000269|PubMed:8651282, ECO:0000269|PubMed:9259266}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P55084
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Thiolase, active site | 453 - 466 | IPR020610 |
| conserved_site | Thiolase, conserved site | 418 - 434 | IPR020613 |
| active_site | Thiolase, acyl-enzyme intermediate active site | 134 - 152 | IPR020615 |
| domain | Thiolase, N-terminal | 54 - 324 | IPR020616 |
| domain | Thiolase, C-terminal | 331 - 470 | IPR020617 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.16 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| mitochondrial envelope | The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. |
| mitochondrial fatty acid beta-oxidation multienzyme complex | A complex that includes the long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain enoyl-CoA hydratase activities in two subunits (alpha and beta), catalyzing two steps of the fatty acid beta-oxidation cycle within the mitochondrial matrix. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3-hydroxyacyl-CoA dehydrogenase activity | Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H(+). |
| acetyl-CoA C-acetyltransferase activity | Catalysis of the reaction: 2 acetyl-CoA = CoA + acetoacetyl-CoA. |
| acetyl-CoA C-acyltransferase activity | Catalysis of the reaction: acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA. |
| acetyl-CoA C-myristoyltransferase activity | Catalysis of the reaction: myristoyl-CoA + acetyl-CoA = 3-oxopalmitoyl-CoA + CoA. |
| enoyl-CoA hydratase activity | Catalysis of the reaction: (3S)-3-hydroxyacyl-CoA = trans-2-enoyl-CoA + H2O. |
| lncRNA binding | Binding to a long noncoding RNA (lncRNA). |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTILTYPFKN | LPTASKWALR | FSIRPLSCSS | QLRAAPAVQT | KTKKTLAKPN | IRNVVVVDGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RTPFLLSGTS | YKDLMPHDLA | RAALTGLLHR | TSVPKEVVDY | IIFGTVIQEV | KTSNVAREAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGAGFSDKTP | AHTVTMACIS | ANQAMTTGVG | LIASGQCDVI | VAGGVELMSD | VPIRHSRKMR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLMLDLNKAK | SMGQRLSLIS | KFRFNFLAPE | LPAVSEFSTS | ETMGHSADRL | AAAFAVSRLE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QDEYALRSHS | LAKKAQDEGL | LSDVVPFKVP | GKDTVTKDNG | IRPSSLEQMA | KLKPAFIKPY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GTVTAANSSF | LTDGASAMLI | MAEEKALAMG | YKPKAYLRDF | MYVSQDPKDQ | LLLGPTYATP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KVLEKAGLTM | NDIDAFEFHE | AFSGQILANF | KAMDSDWFAE | NYMGRKTKVG | LPPLEKFNNW |
| 430 | 440 | 450 | 460 | 470 | |
| GGSLSLGHPF | GATGCRLVMA | AANRLRKEGG | QYGLVAACAA | GGQGHAMIVE | AYPK |